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Genetic and Rare Diseases Information Center (GARD)

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Pontine tegmental cap dysplasia

Other Names for this Disease
  • PTCD
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What are the signs and symptoms of pontine tegmental cap dysplasia?

Patients with PTCD present with a variety of medical and developmental problems. Not all patients will have the same issues and the severity of the issue may differ. The following features have been found in studies of patients with PTCD: hearing impairment, feeding and swallowing difficulties that often lead to pneumonia, intellectual disability that ranges from mild to severe, speech and language disorders, hypotonia, ataxia, facial paralysis, reduced vision and behavioral problems. Affected individuals may also have abnormalities of the heart, gastrointestinal tract, genitourinary system and skeleton.[5199]

Last updated: 4/27/2012